A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255782



Internal ID22117758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:70285665..70304029hg38UCSC Ensembl
Outerchr12:70679445..70697809hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3818365
hg1918365
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227904
Supporting Variants
SamplesHG00512
Known GenesCNOT2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255782
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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